What are the other Names for this Condition? (Also known as/Synonyms)

• Camptodactyly and Sacral Vertebral Fusion Syndrome
• Camptodactyly and Vertebral Fusion 

What is Camptodactyly Vertebral Fusion Syndrome? (Definition/Background Information)

• Camptodactyly Vertebral Fusion Syndrome is a rare genetic disorder, characterized by permanent bending of one or more fingers and fusion of vertebrae
• The gene or genes involved in causing Camptodactyly Vertebral Fusion Syndrome are not known at the present time. Scientists believe that the disorder is inherited in an autosomal dominant manner
• The signs and symptoms of Camptodactyly Vertebral Fusion Syndrome may include permanently bent fingers in one or both hands, scoliosis, torticollis, and limitation of movement in upper limbs

Who gets Camptodactyly Vertebral Fusion Syndrome? (Age and Sex Distribution)

• Camptodactyly Vertebral Fusion Syndrome is a rare congenital disorder. The symptoms may be apparent at birth
• Both males and females may be affected 
• Worldwide, individuals of all racial and ethnic groups may be affected 

What are the Risk Factors for Camptodactyly Vertebral Fusion Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Camptodactyly Vertebral Fusion Syndrome is an inherited condition 
• Currently, no other risk factors have been clearly identified for the syndrome 

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. 

What are the Causes of Camptodactyly Vertebral Fusion Syndrome? (Etiology)

• The gene or genes involved in causing Camptodactyly Vertebral Fusion Syndrome are not known at the present time
• Scientists believe that the disorder is inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Camptodactyly Vertebral Fusion Syndrome?

The signs and symptoms of Camptodactyly Vertebral Fusion Syndrome may vary among affected individuals in type and severity, but may include:

• One or more permanently bent fingers in one or both hands
• Fused sacral vertebrae
• Scoliosis, resulting in
  • Curving of the spine to one side
  • Shoulders appear uneven; one of the shoulder blade is more prominent than the other
  • Waist is uneven, hip positions appear different, shifted pelvis observed
  • Protrusion of ribs on one side of the body
  • Back pain
  • Breathing difficulties
  • Nerve response becomes slower
  • Uneven arms, legs
  • Extreme fatigue, after standing or sitting for a long time
• Torticollis (contraction of neck muscles leading to twisting/tilting of neck to one side)
  • Head tilted to one side (mostly to the right side), with limited movement of the neck. The abnormal head position becomes apparent after a few months
  • Due to the baby frequently sleeping on one side, the head or skull base may flatten and acquire an asymmetrical shape
  • A soft tumorous swelling may be noticed in the neck region, which may be present for 4-8 months, on the side towards which the head slant is observed
  • Extreme head postures may create breastfeeding issues; feeding from one breast may be difficult
• Headache
• Neck pain
• Restricted movement in arms and shoulders

How is Camptodactyly Vertebral Fusion Syndrome Diagnosed?

Camptodactyly Vertebral Fusion Syndrome is diagnosed on the basis of the following information: 

• Complete physical examination 
• Thorough medical history evaluation 
• Assessment of signs and symptoms 
• Laboratory tests 
• Imaging studies 
• Biopsy studies, if necessary 

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Camptodactyly Vertebral Fusion Syndrome?

The complications of Camptodactyly Vertebral Fusion Syndrome may include: 

• Lung damage due to scoliosis: The rib cage might press against the lungs and affect its normal function, causing breathing difficulties and may also lead to lung infections (pneumonia)
• Heart damage: As a result of scoliosis, the rib cage presses against the chest causing damage to the heart and its malfunction
• Back problems: Severe back pain is an end result of scoliosis
• Height problems: An individual may not be able to attain his/her full height
• Appearance or self-image issues, due to prominent unevenness of the ribs hips and shoulders. This may cause deep and long-term emotional and psychological stress, in both children and adults; affecting their performance at school, college, work, and at social life
• Movement limitations
• Relapse of torticollis even after treatment

Complications may occur with or without treatment, and in some cases, due to treatment also. 

How is Camptodactyly Vertebral Fusion Syndrome Treated?

There is no cure for Camptodactyly Vertebral Fusion Syndrome, since it is a genetic condition. However, the following methods may be adopted to offer relief to the affected individual.

For camptodactyly:

• Physiotherapy, stretching of bent fingers
• Use of splint to straighten fingers

For scoliosis:

• Children with mild curves do not require any treatment. However, mild scoliosis will need regular check-ups with the healthcare providers at regular intervals, every 4-6 months
• In the case of mild scoliosis where the child’s bones are still growing, the doctor may recommend a padded brace to stop further curve progression. These are of two types:
  • Underarm, or low profile brace
  • Milwaukee brace
• In severe cases of scoliosis, surgery may be recommended. The most common type of surgery is spinal fusion, where two or more bones in the vertebrae are joined together. Metal rods, hooks, screws, and wires, hold the bones in an upright position. Surgery is only recommended after the bones have stopped growing
• For children, who suffer a rapid progression of the curve, while the bones are still in the process of growth, the doctor may attach a growing rod that adjusts itself according to the child’s growth. This rod is attached to the top and bottom sections of the curved spine and its length is increased every six months

For torticollis:

• Physical therapy; to gently help increase range of motion and provide proper shape to the head, to prevent further muscle contracture and loss of muscle function. This is achieved by using age-suitable stretching and musculoskeletal strengthening exercise program, which helps in decreasing muscle fatigue and stress
• Use of special child neck collar (called TOT collar), after the age of 4 months
• Application of warm compress, or heat
• Surgical techniques are employed if symptoms persist after one year of conservative management of the condition. This is then followed by post-surgical physiotherapy
• If required, Botox injections may be used to improve and strengthen the muscle condition

How can Camptodactyly Vertebral Fusion Syndrome be Prevented?

Presently, Camptodactyly Vertebral Fusion Syndrome may not be preventable, since it is a genetic disorder.

• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child 
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders 
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Camptodactyly Vertebral Fusion Syndrome? (Outcomes/Resolutions) 

• The prognosis of Camptodactyly Vertebral Fusion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any 
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications 
• Typically, the prognosis may be assessed on a case-by-case basis 

Additional and Relevant Useful Information for Camptodactyly Vertebral Fusion Syndrome:

The following DoveMed website links are useful resources for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

http://www.dovemed.com/diseases-conditions/scoliosis/

http://www.dovemed.com/diseases-conditions/congenital-muscular-torticollis-cmt/